Medical genetics Books

Book SynopsisSCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.

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Book SynopsisThis innovative and engaging book argues that because our genetic information is directly linked to the genetic information of others, it is impossible to assert a right to privacy' in the same way that we can in other areas of life. This position throws up questions around access to sensitive data. It suggests that we may have to abandon certain intuitions about who may access our genetic information; and it raises concerns about discrimination against people with certain genetic characteristics. But the author asserts that regulating access to genetic information requires a more nuanced perspective that does not rely on the familiar language of rights. The book proposes new ways in which we may think about who has access to what genetic information, and on what basis they do so. Conceptually challenging, the book will prove engaging reading for scholars and students interested in the area of bioethics and medical law, as well as policy makers working with these presTable of ContentsIntroduction. Part I: Presumptions and Foundations. 1.Genes and Information Sharing. 2.What is Privacy? Part II: A Sceptic’s Tour of Genetic Privacy Rights. 3.Rights to know and Duties no to. 4.What is a Privacy Right? 5.Other Ways to Think about Privacy Rights. 6.Privacy and Reasons to Disclose. Part III: Rebuilding Genetic Privacy Rights. 7.Reinventing Privacy. 8.Reinvention and Regulation.

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Book SynopsisHow scientific advances in genetic modification will fundamentally change the natural worldThe process of manipulating the genetic material of one animal to include the DNA of another creates a new transgenic organism. Several animals, notably goats, mice, sheep, and cattle are now genetically modified in this way. In Our Transgenic Future, Lisa Jean Moore wonders what such scientific advances portend. Will the natural world become so modified that it ceases to exist? After turning species into hybrids, can we ever get back to the original, or are they forever lost? Does genetic manipulation make better lives possible, and if so, for whom?Moore centers the story on goats that have been engineered by the US military and civilian scientists using the DNA of spiders. The goat's milk contains a spider-silk protein fiber; it can be spun into ultra-strong fabric that can be used to manufacture lightweight military body armor. Researchers also hope the transgenically produced spider silk willTrade Review"Lisa Jean Moore contributes a very needed conversation regarding the ways technology is built, maintained, and destroyed, and the tensions that evolve in its creation between funding entities, scientific knowledge production, and the general public. Moore walks a narrow line between a fear of dystopian consequences and a realization of the sheer possibilities associated with their human-driven existence. Her voice is nicely interwoven with interspecies relationships, the commodification of nonhuman-nonanimal animals (at least in the natural sense), scientific facts, economic drivers, and the oft-unrealized presence of transgenic technologies in our daily lives." * Andrea Laurent-Simpson, author of Just Like Family: How Companion Animals Joined the Household *"A fascinating and fun read. Lisa Jean Moore deftly analyzes a biologically and ethically complex topic, using reflexive analyses to guide the reader along, and contributing to emergent knowledge about genetically modified animals. Moore’s reflexivity invites the reader to witness her thinking about difficult issues, and thus the book also provides a path for us as readers to think alongside her. She doesn’t tell readers what to think on the topic, or even how to think about it, but by modeling her thinking through the topic, we are able to fully grasp the issue at hand and come to our own (messy) conclusions." * Elizabeth Cherry, author of For the Birds: Protecting Wildlife through the Naturalist Gaze *"For a reader interested in the details and daily routine of this kind of scientific interaction with large animals, there is much in this book to enjoy. One may also learn something about spiders, which are undoubtedly fascinating creatures." -- John Dupré * Los Angeles Review of Books *"Moore's narration is delicate, respectful, and wonder-filled... genuinely fun and eminently accessible. Lisa Jean Moore’s Our Transgenic Future is an entertaining, thoughtful inquiry into genetic engineering in general and all of the many ethical questions that it raises." -- Rebecca Coffey * Forbes *

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Book SynopsisBillions of spots of tiny genetic code comprise the human genome. It was DNA sequencing technology that had revolutionized genomic research by decoding the valuable genetic information by giving the picture of an exact order of occurrence of nucleotides in a DNA. The inception of first-generation sequencing method, also called Sanger sequencing took place in 1975. The first major breakthrough of first-generation sequencing comes, when the 13 year log Human Genome Project (HGP) was completed in 2003 at a cost $3 million. With ever increasing demands of researchers and clinicians, complex genomic research require a depth of information which is however beyond the capacity of traditional DNA sequencing technologies. These research questions gaps are very well addressed by Next-generation sequencing (NGS) has filled that gap of cheaper as well as faster sequencing technology.It is just a decade old technology, but it has popularize the next-generation sequencing to high-throughput sequencing hat allow millions to trillions of observations to be made in parallel during a single instrument run. Since the introduction of these technologies, the number of applications and methods that influence the power of genome-scale sequencing has increased exponentially. Although in genome research NGS has mostly superseded conventional Sanger sequencing, it has not yet translated into routine clinical practice.The following chapter will highlight the concepts, technologies, and methods of next-generation sequencing to illustrate the breadth and depth of the applications and research areas that are driving progress in genomics.

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Book SynopsisJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.Trade ReviewFrom the reviews:“Clearly the information is unique and appropriate for clinicians involved in the care of patients with inherited metabolic disorders. This is a good source of updated information on well-established clinical phenotypes as well newly described disorders. … JIMD is unique in its inclusion of clinical reports and short research reports, which makes it very attractive to busy clinicians wishing to publish their unique cases. It is a must-have in all metabolic clinics.” (Luis F. Escobar, Doody’s Book Reviews, May, 2014)Table of ContentsDifferent case studies.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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Table of ContentsIntroductory Remarks.- Nomenclature for Factors of the HLA System 1984.- Joint Reports.- The HLA System, 1984.- HLA at the Gene Level.- Biochemistry of Class II Antigens: Workshop Report.- The Central Data Analysis of the Ninth Workshop.- Analysis of Multilocus Pedigree Data by Computer.- PEDPLO: The Pedigree Plot Program.- Cell Typing by Computer.- Unbiased Serum Analysis.- Selection of a Set of High-Quality Data for B Cell Antigen Analysis.- The Serological Analysis of the Data of the Ninth Histocompatibility Workshop.- Analysis of HLA-DR Typing sera Used in the Workshop Transplant Study.- Antigen Reports.- HLA-A1.- HLA-A2.- HLA-A3.- HLA-A11.- HLA-A23.- HLA-A24.- A9.3.- HLA-A25.- HLA-A26.- HLA-A28.- HLA-A29.- HLA-A30 HLA-A31.- HLA-A32.- HLA-Aw33.- HLA-Aw34.- HLA-Aw36.- HLA-Aw43.- HLA-Aw66.- TH.- HLA-B7.- HLA-B8.- HLA-B13.- HLA-B14: Definite Splitting into Bw64 (14.1) and Bw65 (14.2).- HLA-B18.- HLA-B27.- HLA-B35.- HLA-B37.- HLA-B38.- HLA-B39.- HLA-BW41.- HLA-BW.- HLA-B44.- HLA-B45.- HLA-BW46.- HLA-BW47.- HLA-BW48.- HLA-B49.- HLA-Bw50.- HLA-B51 and HLA-Bw52.- HLA-BW53.- HLA-BW54, HLA-BW55, and HLA-BW56.- HLA-BW57.- HLA-BW58.- HLA-Bw59.- HLA-BW60.- HLA-BW61.- HLA-Bw62 and Other Bw6-Associated Variants of B15.- HLA-Bw63 and Other Bw4-Associated Variants of B15.- HLA-Bw67.- HLA-Bw70, HLA-Bw71, and HLA-Bw72.- HLA-Bw73.- HLA-Bw4 and HLA-Bw6.- HLA-CWL.- HLA-CW2.- HLA-CW3.- HLA-CW4.- HLA-CW5.- HLA-CW6.- HLA-CW7.- HLA-CW8.- NEW HLA-C.- HLA-DR1.- HLA-DR2.- HLA-DR3.- HLA-DR4.- HLA-DR5 and Its Subtypes HLA-DRwl 1 and HLA-DRwl2.- HLA-DRW6 and Its Subgroups HLA-DRWL3 and HLA-DRWL4.- HLA-DR7.- HLA-DRW8.- HLA-DRW9.- HLA-DRWL0.- HLA-DRW52.- HLA-DRW53.- New HLA-DR.- HLA-DQWL.- HLA-DQW2.- HLA-DQW3.- Reports on Monoclonal Antibodies.- HLA-A, B, C Monoclonal Antibodies.- HLA-D Region Monoclonal Antibodies.- Special Serology Reports.- HLA-A, B, Interlocus Specificities.- Specificity of The Ninth Workshop Anti la Alloantisera As Assessed by The Direct Binding Assay.- HLA-DR, DQ, and DW Relationships.- HLA-DR, DQ, LB, and TA10 Specificities of Ninth Workshop Homozygous Typing Cells.- Cellular Part: Homozygous Typing Cells (HTC).- Definition of HLA-D with HTC.- Segregation Analysis (HTCS).- First Level Testing of HLA-DR4-Associated New HLA-D Specificities: DWL3 (DB3), DWL4 (LD40), DWL5 (DYT), and DKT2.- First Level Testing of DW6 HTC.- First Level Testing of DW7 HTC.- First Level Testing of DW8 HTC.- First Level Testing of HLA-D “Blank” HTC.- DNA Restriction Fragment Length Polymorphism of Some Ninth Workshop Homozygous Typing Cells Using a cDNA Probe Specific for DRß.- Cellular Part: Primed Lymphocyte Typing (PLT).- Genetic Analysis of HLA-D Region Products Defined by PLT.- Segregation Analysis of PLT Reagents in Families.- Median Stabilization of PLT Data for the Central Workshop Analysis.- Origin and Expansion of SB (DP)-Specific Reagents Characterized in the Ninth International Workshop.- Cellular Part: Cell-Mediated Lympholysis (CML).- CML: A Method for Cellular Typing.- Complement Polymorphisms.- The Second Complement Component, C2, in the Ninth Workshop.- Properdin Factor B.- C4 Polymorphism.- Genetics of HLA.- Analysis of MHC Recombinant Families.- Linkage Between HLA-A, C, B, Bf and DR Alleles: Haplotype Study of Healthy Families by Factorial Correspondence Analysis.- The Nature of Selection in the HLA Region Based on Population Data From the Ninth Workshop.- Population Analysis on the Basis of Deduced Haplotypes from Random Families.- Ninth International Histocompatibility Workshop Renal Transplant Study.- Disease Reports.- Insulin-Dependent Diabetes Mellitus.- HLA-DR3 and DR7-Negative Celiac Disease.- Leprosy.- Juvenile Chronic Arthritis, Pauciarticular Type.- A Family Study of Gold-Induced Nephropathy in Patients with Rheumatoid Arthritis.- Rheumatoid Arthritis.- D-Penicillamine-Induced Myasthenia Gravis.- HLA-B27-Negative Ankylosing Spondylitis.- Scleroderma: Possible Association with the C4 System - A Progress Report.- Beh?et’s Disease.- Kawasaki Disease (Mucocutaneous Lymph Node Syndrome).- Classical and AIDS Kaposi’s Sarcoma.- HLA and Familial Malignant Melanoma.- Hodgkin’s Disease.- Original Contributions.- Serology.- Human Histocompatibility Antigens in Malignant Tumors of Nonlymphoid Origin.- B27 Subtypes.- Segregation of DQ and DR: “Exceptions to the Rule”.- Characterization of a New Subset of B Cell Alloantigens.- Serologic Detection of New Polymorphisms on DQ Molecules Distinct from the DQw1, 2, and 3 Specificities.- Analysis of 9W Antisera Detecting DR4- and DR2-Associated Epitopes by Use of Anti-idiotypic Antibodies.- The HLA-D Region: Serology, Structure, Tissue Distribution, and Function of Human Class II Molecules and Their Antigenic Determinants.- Definition of MCI, a Novel HLA Determinant Associated with DR1 and DR4.- A Monoclonal Antibody (GH-3): “Non-orthodox” Anti-HLA-A3 or A11 Induced by a Lymph Node Extract from a Hodgkin’s Disease Patient.- Enhancing Monoclonal Antibodies Against HLA-Bw4 Molecules.- Spatial Localization of Allospecific HLA Class I Epitopes by Antibody Blocking Studies.- Analysis of Homozygous Typing Cells with Primed Lymphocytes and Monoclonal Antibodies Directed Against Polymorphic la Antigen Epitopes.- A Monoclonal Antibody Detects a New Antigenic Determinant Shared by DR1 and DR4/Dw4 Molecules.- Serological Analysis of Two Monoclonal Antibodies: One Detecting an DRw53 Supertypic Determinant and One Detecting a New Supertypic Determinant Related to HLA-DR7.- Study of Monoclonal Antibodies to the HLA-D Region Products DQW1 and DRw52.- Characterisation of the HLA-D Region DQw3 Specificity Using the Monoclonal Antibodies 2HB6 and IVD12.- Idiotypic Analysis of Anti-Human MHC Class II Monoclonal Antibodies by Syngeneic Anti-Idiotypes.- Comparison of Human-Human and Human-Mouse Hybridoma Systems for the Production of Alloreactive Human Monoclonal Antibodies.- Crossreactivity of Monoclonal Anti-HLA Antibodies with Rhesus Monkey Lymphocytes.- A Simple and Rapid Procedure for Purification of Human Dendritic Cells From Peripheral Blood.- HLA-A, B, C Typing Using Serum.- Definition of Two Monocyte-Specific Antigens, One of Which Correlates with the 9 a Antigen.- Anti-Idiotypic Antibodies in Women with Successful Pregnancy.- T-Cell Alloantigens.- Class I MHC-Linked Determinants Expressed on Activated T Cells.- Alloantibodies to PHA-Activated Lymphocytes Detect Human QA-Like Antigens.- T Cell System A in Humans is Probably Equivalent to Qa or Tla in Mice.- New Determinants Expressed on Activated Lymphocytes and on Human Acute Lymphoblastic Leukemia Cells Closely Linked to Conventional HLA-A Antigens.- Cellular Definition of HLA Antigens.- Analysis of DP Region Products by T Cells and Monoclonal Antibodies:Blocking of DP-Specific Proliferation and Cell-Mediated Cytotoxicity.- Typing for DP-like Determinants.- LB-Q1 and LB-Q2: Population Genetics in Dutch Caucasoids and Inhibition Studies with Monoclonal Antibodies.- Allelic Class II Determinants Defined by PLT Typing.- HLA-D and DR in Different Populations.- Private Specificities of Human IA-Like Molecules Detected by T Cell Lines.- PLT Analysis of D Region Complexity by Cloned Cells: A New Non-DP Antigen.- Correlation Between PLT and CML Specificity of Alloreactive TCell Clones.- Heterogeneity of DR5-Associated Alloantigens Detected by Human T Lymphocyte Clones.- Heterogeneity of HLA-B7 as Detected by Cytotoxic T Cell Clones.- Analysis of Cytolytic Clones Directed at Class I and Class II Antigens Using HLA Loss Mutants of a Lymphoblastoid Cell Line.- HLA Mutants of Lymphoblastoid Cell Lines: Generation of New Mutants and Analysis by Southern Blotting.- Mutant Cell Lines as Means of Resolving HLA Gene Products.- Human T Cell Clone Inhibition by Distinct Monoclonal Anti-HLA-DR Antibodies.- Variation in the Epitopes on the HLA-A2 Molecule as Recognized by HLA-A2 Restricted and Alloimmune HLA-A2-Specific Cytotoxic T Lymphocytes.- Cloned Cytotoxic T Cells Which May Define a Minor Transplantation Antigen and a Variant of the HLA-B8 Molecule.- Construction and Expansion of CTLs for HLA Typing: Definition of B44 Subtypes by Cellular Typing.- Frequencies of Proliferative and Cytotoxic Precursor T Cells During a Course of Active Immunization as Analysed by Limiting Dilution.- HLA Class II Alloantigens Defined by Cytotoxic T Cell Clones and Monoclonal Antibodies.- Biochemistry of HLA Antigen.- Structural Analysis of the Polymorphism of HLA Class I Antigens.- Molecular and Functional Analysis of Class II Molecules Characteristic to HLA-Dw2 and Dwl2.- Two-dimensional Gel Analysis of DR2 and DQwl Molecules Isolated from Dw2 and Dwl2 Homozygous Cell Lines.- Separation of Three Human B-Cell Alloantigens, DR4, DRw53, and DQw3 (TB21), by Two-dimensional Gel Electrophoresis: Comparison of Alloantibodies and Monoclonal Antibodies.- Serological and Structural Heterogeneity of HLA-DR4 Alloantigens.- Molecular Polymorphism of DR and DQ Products.- Structural Polymorphism in DQw3 Light Chains.- Molecular Dissection of DRw6.- Heterogeneity of HLA Class II Gene Products as Studied in a Family by Sequential Immunoprecipitation.- A Supertypic DRw53 Determinant is Carried on the HLA-DR Subset of Class II Molecules on HLA-DR7 Cell Lines n.- The Molecular Complexity of DR7-Associated la Molecules.- Alloantisera and Monoclonal Antibodies Which Appear to Define the Same la Allospecificity in Population Studies Do Not Detect the Same la Molecules in Biochemical Studies.- The Polymorphism of DQ (DC) Molecules.- Comparison of Supertypic Specificities by Cytotoxicity and by Radioimmunoassay in Segregating Families.- HLA-FA: A Non-DR, Non-DQ HLA Class II Product.- Hybrid HLA-DQ Antigens: Molecular Expression.- Nonassociated HLA-DR ? and ? Chains: Molecular Detection and Differential Cellular Expression.- The Expression of HLA-DR, DQ and DP Antigens on the Surface of Lymphocytes as Assessed by 2-D Polyacrylamide Gel Analysis of Immunoprecipitates.- Preferential Increase of Expression and Release of DQ Molecules in Human Cells Treated with Interferons.- Differential Molecular Expression of HLA-DR and HLA DQ Antigens in Leukemic Cells.- Analysis of HLA Genes at the DNA Level.- HLA Class I Gene Typing with an HLA-B-Specific DNA Probe.- A Study of HLA-B-Locus Polymorphism with a Specific Hybridization Probe.- HLA Gene Polymorphisms: Class I.- HLA Gene Polymorphism: Class II.- Association of Class I and Class II MHC Restriction Fragment Polymorphism with HLA-Related Diseases.- Cloning and Expression of the Gene Encoding HLA-A11.- Isolation and Characterization of the cDNA Clones and the Genomic Clones of the HLA Class II Antigen Heavy Chains.- DNA Polymorphism of HLA-DR? and HLA-DP? Genes.- Molecular Complexity of the HLA-DR, DQ, and DP Genes and Genotypic Split of HLA-DR Serological Specificities by “DNA Typing”.- HLA Class II Polymorphism: Restriction Fragment Patterns Correlated to Ninth Workshop Serology and Function.- HLA-DRw6: A Molecular Approach.- Molecular Analysis of HLA: Haplotype-Specific DNA Hybridization Patterns Using Class II cDNA Probes.- Analysis and Segregation of HLA-DR by DNA Typing: Correlation with Supertypic Specificities.- Recombinant DNA Technology: Its Use in the Study of HLA.- HLA-DR and DQ, Studied with Genomic Blotting, in Diabetic Families and Transplant Donor-Recipient Pairs.- DNA Restriction Fragment Length Polymorphism of the Human Class II Genes as Analyzed by Southern Blotting Technique.- Mouse L Cells Expressing Human HLA-DR Antigens After Transfection with Class II Genes Do Not Stimulate Human T Lymphocytes.- Modification of Immunogenicity of Leukaemic Cells by DNA Mediated Gene Transfer.- Genetics of HLA.- Precise Location of HLA Genes on Chromosome 6.- A Structural Locus for Coagulation Factor XIIIA (Fl3A) Is Located Distal to HLA on the Short Arm of Chromosome 6 in Man.- The Selective Origin of Linkage Disequilibrium in the HLA Region.- HLA-A, B Genes in the World and the Effect of Climate.- Glyoxalase I (GLO I) Phenotyping by Isoelectric Focusing.- Complement Polymorphisms.- C4 Haplotypes with Duplicated C4A or C4B: Frequency and Associations with Bf, C2, and HLA-A, B, C, DR Alleles with Special Reference to the Duplication C4B1,2.- Gene Duplication of C4A in the Lancaster County, Pennsylvania, Old Order Amish: C4A*2A*3 is in Coupling with HLA A3, Cw4, B35, BfF, DR1, GL02.- Distinct Complotypes Are Associated with HLA-B14 Subgroups.- Bf Polymorphism Studied by Isoelectrofocusing.- >Function of HLA Gene Products.- Genetic Control of HLA-Linked Immune Responsiveness to Synthetic Polypeptides in Healthy Individuals and Patients with Autoimmune Diseases.- HLA-Linked Immune Suppression Genes: A Mechanism for the Statistical Association Between HLA and Disease.- Effects of Anti-DQ (MB) and Anti-DR Monoclonal Antibodies on In Vitro Immune Responses.- Individual Differences in the In Vitro (CTC) Immune Response to HLA Antigens.- HLA-Linked Gene Regulation of the Immune Response to Nitrofurantoin-Albumin.- Phenotype and Specificity of MLR-Generated Suppressor Cells.- Alloproliferative T4+ T8- Human T Cell Clones with Suppressive, Not Helper, Function.- Relationship Between the OKT Phenotype of Alloreactive Human T Cell Clones and Their Specificity for HLA Class II Antigens.- Functional Heterogeneity of Human T Cell Responses to Class I and Class IIMHC Antigens.- Restriction of Human Influenza A Virus-Specific T Cell Clones by HTC-Defined Subtypes of HLA-Dw6.- Antigen-Specific T Cell Clones Restricted by DR, DQ, or DP Class II HLA Molecules.- HLA-DR Typing by Restriction Specificity. A Functional Approach Using PPD-Specific CTLs and Antigen Presenting Monocytes.- Cytotoxic T Cells Generated During GvHD Can Detect Minor Histocompatibility Antigens in an HLA-Restricted Fashion.- Clonal Distribution of Human T Cells Recognizing PPD in the Context of Each of Two Distinct la Molecules.- Function of DRw52 and LB-Q1 in Antigen Presentation.- Subdivision of DRw6 by Influenza-Specific Proliferative Cloned Cell Lines.- Human T Cell-Mø Collaboration Across Allogeneic Barrier.- Expression of HLA-DQ Molecules on Human Monocytes: Identification of Two Phenotypically Different Monocyte Populations with Distinct Accessory Cell Function.- Differential Expression of the HLA-DQ Antigens on Acute Leukaemic Blasts.- Expression of HLA Class II Molecules on Human Monocytes and Dendritic Cells.- Absence of DQwl on Monocytes Depending on the DR Antigens Expressed.- Interaction Between HLA Class I Antigens and ?-Endorphin.- The Major Histocompatibility Complex as an Antibiosenescent System.- HLA and Disease.- Defective Expression of HLA-D-Region Determinants in Children with Congenital Agammaglobulinemia and Malabsorption: A New Syndrome.- Defect of Expression of MHC Genes Responsible for an Abnormal HLA Class I Phenotype and the Class II Negative Phenotype of Lymphocytes from Patients with Combined Immunodeficiency.- Inheritance and Possible Coinheritance of HLA-Linked Susceptibilities to Insulin-Dependent Diabetes Mellitus, Autoimmune Thyroid Diseases, and Rheumatoid Arthritis.- Genetic Polymorphism of the Fourth Component of Complement (C4)- and Type I Insulin-Dependent Diabetes.- Presence of Thyroid-Stimulating Immunoglobulins (TSI) in DR3 Positive Normal Individuals.- Three Different HLA Associations in the Three Types of 21-Hydroxylase Congenital Adrenal Hyperplasia.- Distinct HLA-B Antigen Associations for the Salt-Wasting and Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21 -Hydroxylase Deficiency.- Defect of Ferritin Secretion in HLA-A3 Subjects and in Idiopathic Hemochromatosis.- Immunogenetic Analysis of Leprosy in Japan.- Affected Sib Methods.- Genetic Interrelationship Amongst HLA-Associated Diseases.- Is the Lod Score Method Reliable in HLA-Associated Diseases?.- HLA-DR, Gm Allotypes and Sex as Risk Factors for Celiac Disease.- Transplantation.- The Relative Importance of MLC and HLA-DR Compatibility in Cadaver Kidney Transplantation.- Long-Term Follow-Up of London Transplant Group (LTG) Renal Transplant Patients.- The Influence of HLA-A, B Compatibility on Cadaver Donor Renal Transplantation in SEOPF.- Donor-Specific Blood Transfusion and Renal Graft Survival: A 3-Year Experience in Pediatrics.- Marrow Transplantation from Donors Other Than HLA Genotypically Identical Siblings: The Immunogenetics of Acute Graft Versus Host Disease.- Immunological Investigation of Patients Treated for Leukaemia by Bone Marrow Transplantation (BMT).- Chimerism Following Fetal Liver and Thymus Transplantation.- Annex.- Reference Tables of Two-Locus Haplotype Frequencies for All MHC Marker Loci.- Reference Tables of Three-Locus Haplotype Frequencies and Delta Values in Caucasians, Orientals, and Negroids.- Index of Authors.

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Book SynopsisComparison of closely related species is a powerful D. melanogaster. In D. melanogaster, microsatel- approach to understanding the changes that have oc- lites reveal that West African popUlations are more curred since their divergence from a common ancestor. closely related to non-African populations than to The sibling species Drosophila melanogaster and D. East African popUlations. East African populations are simulans are probably the species pair for which the more variable than West African or non-African popu- most genetic data are available. A workshop held at lations, suggesting that East African populations may 1 Gif/Yvette in January 2002 reviewed and discussed more closely reflect African ancestral variability. comparisons between these species, from their ecol- Ecophysiology, popUlation dynamics and popula- tion structure are also important to understanding the ogy and biogeography to their behavior and DNA evolution of the two species. Genetic diversity (8) polymorphism. is higher in D. simulans (S. Mousset and R. Singh).Table of ContentsPreface; P. Capy, P. Gibert, I. Boussy. 1. Drosophila melanogaster, Drosophila simulans: so similar yet so different; P. Capy, P. Gibert. Biogegraphy and population structure: past and present. 2. How two Afrotropical endemics made two cosmopolitan human commensals: the Drosophila melanogaster-D. simulans palaeogeographic riddle; D. Lachaise, J.F. Silvain. 3. Mitochondrial DNA in the Drosophila melanogaster complex; M. Solignac. 4. Wolbachia infections in Drosophila melanogaster and D. simulans: Polymorphism and levels of cytoplasmic incompatibility; H. Mercot, S. Charlat. 5. Historicity and the population genetics in Drosophila melanogaster and D. simulans; M. Veuille, E. Baudry, M. Cobb, N. Derome, E. Gravot. 6. Patterns of microsatellite variability in the Drosophila melanogaster complex; B. Harr, C. Schlötterer. 7. Molecular polymorphism in Drosophila melanogaster and D. simulans: What have we learned from recent studies? S. Mousset, N. Derome. 8. The Sex-Ratio trait and its evolution in Drosophila simulans: a comparative approach; D. Jutier, N. Derome, C. Montchamp-Moreau. 9. A reanalysis of protein polymorphism in Drosophila melanogaster, D. simulans, D. sechellia, and D. mauritiana: effect of population size and selection; R.A. Morton, M. Choudhary, M.-L. Cariou, R.S. Singh. Transposable elements and chromosomes. 10. Transposable element dynamics in two sibling species: Drosophila melanogaster and Drosophila simulans; C. Viera, C. Biémont. 11. Wanderings of hobo: a transposon in Drosophila melanogaster and its close relatives; L.A. Boussy, M. Itoh. 12. Mitotic and polytene chromosomes:comparisons between Drosophila melanogaster and Drosophila simulans; S. Aulard, L. Monti, N. Chaminade, F. Lemeunier. Geographical variability and adaptation. 13. Comparative life histories and ecophysiology of Drosophila melanogaster and D. simulans; J.R. David, R. Allemand, P. Capy, M. Chakir, P. Gibert, G. Pétavy, B. Moreteau. 14. Comparative analysis of morphological traits among Drosophila melanogaster and D. simulans: genetic variability, clines and phenotypic plasticity; P. Gibert, P. Capy, A. Imasheva, B. Moreteau, J.P. Morin, G. Pétavy, J.R. David. 15. Ecological and genetic interactions in Drosophila-parasitoids communities: a case study with D. melanogaster, D. simulans and their common Leptopilina parasitoids in South-Eastern France; F. Fleury, N. Ris, R. Allemand, P. Fouillet, Y. Carton, M. Boulétreau. 16. Relations between cuticular hydrocarbon polymorphism, resistance against desiccation and breeding temperature: a model for their evolution in Drosophila melanogaster and D. simulans.J. Rouault, C. Marican, C. Wicker-Thomas, J.-M. Jallon. 17. Molecular analysis of circadian clocks in Drosophila simulans; A.S. Rogers, E. Rosato, R. Costa, C.P. Kyriacou. 18. Mutation in Drosophila simulans that lengthens the circadian period of locomotor activity; A.S. Rogers, A.E. Stefan, C. Pasetto, E. Rosato, R. Costa, C.P. Kyriacou. 19. Sperm size evolution in Drosophila: inter- and intraspecific analysis; D. Joly, A. Korol, E. Nevo. Speciation: pre and post zygotic isolation. 20. The nature of genetic variation in sex and reproduction-related genes among sibling species of the Drosophila melanogaster complex; R.J. Kulathinal, R.S. Singh. 21. Genetics of

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Book SynopsisFrom guppies to Galapagos finches and from adaptive landscapes to haldanes, this compilation of contributed works provides reviews, perspectives, theoretical models, statistical developments, and empirical demonstrations exploring the tempo and mode of microevolution on contemporary to geological time scales. New developments, and reviews, of classic and novel empirical systems demonstrate the strength and diversity of evolutionary processes producing biodiversity within species. Perspectives and theoretical insights expand these empirical observations to explore patterns and mechanisms of microevolution, methods for its quantification, and implications for the evolution of biodiversity on other scales. This diverse assemblage of manuscripts is aimed at professionals, graduate students, and advanced undergraduates who desire a timely synthesis of current knowledge, an illustration of exciting new directions, and a springboard for future investigations in the study of microevolution in the wild.Table of ContentsAn introduction to microevolution: rate, pattern, process; A.P. Hendry, M.T. Kinnison. The adaptive landscape as a conceptual bridge between micro- and macroevolution; S.J. Arnold, et al. Possible consequences of genes of major effect: transient changes in the G-matrix; A.F. Agrawal, et al. Toward a new synthesis: population genetics and evolutionary developmental biology; N.A. Johnson, A.H. Porter. Epistasis, complex traits, and mapping genes; M.J. Wade. Population structure inhibits evolutionary diversification under competition for resources; T. Day. Variation, selection and evolution of function-valued traits; J.G. Kingsolver, et al. Why the null matters: statistical tests, random walks and evolution; H.D. Sheets, C.E. Mitchell. Rates of evolution on the time scale of the evolutionary process; P.D. Gingerich. The pace of modern life II: from rates of contemporary microevolution to pattern and process; M.T. Kinnison, A.P. Hendry. Trends and rates of microevolution in plants; E. Bone, A. Farres. The population ecology of contemporary adaptations: what empirical studies reveal about the conditions that promote adaptive evolution; D.N. Reznick, C.K. Ghalambor. Explaining stasis: microevolutionary studies in natural populations; J. Merilä, et al. Ring species as bridges between microevolution and speciation; D.E. Irwin, et al. Microevolution in island rodents; O.R.W. Pergams, M.V. Ashley. Genetic architecture of adaptive differentiation in evolving host races of the soapberry bug, Jadera haematoloma; S.P. Carroll, et al. Rapid evolution of wing size clines in Drosophila subobscura; G.W. Gilchrist, et al. Insecticide resistance in the mosquito Culex pipiens: what have we learnedabout adaptation? M. Raymond, et al. High gene flow levels lead to gamete wastage in a desert spider system; S.E. Riechert, et al. Integrating genetic and environmental forces that shape the evolution of geographic variation in a marine snail; G.C. Trussell, R.J. Etter. On morphological clocks and paleophylogeography: towards a timescale for Sorex hybrid zones; P.D. Polly. A population founded by a single pair of individuals: establishment, expansion, and evolution; P.R. Grant, et al. Refugial isolation versus ecological gradients; T.B. Smith, et al. Experimental studies of adaptive differentiation in Bahamian Anolis lizards; J.B. Losos, et al. Runaway social games, genetic cycles driven by alternative male and female strategies, and the origin of morphs; B. Sinervo. Mechanisms of rapid sympatric speciation by sex reversal and sexual selection in cichlid fish; R. Lande, et al. Lateral plate evolution in the threespine stickelback: getting nowhere fast; M.A. Bell. Sexual conflict and evolution in Trinidadian guppies; A.E. Magurran. A century of life-history evolution in grayling; T.O. Haugen, L.A. Vøllestad. Evolution of chinook salmon (Oncorhynchus tshawytscha) populations in New Zealand: pattern, rate, and process; T.P. Quinn, et al. Adaptive divergence and the evolution of reproductive isolation in the wild: an empirical demonstration using introduced sockeye salmon; A.P. Hendry. Authors index.

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a huge range and FREE tracked UK delivery on ALL orders.

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a huge range and FREE tracked UK delivery on ALL orders.

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Book Synopsis, For the most part we. the haemophiliacs present at this Congress. have come from the great metropolitan centres with their advanced medical and social programmes for sufferers of haemophilia. We. the fortunate from the haemophilia oasis. have much to learn from each other. This is important. but even more important is the urgency to convey your knowledge. your skills. your experience and your dedication to the haemophiliacs in the desert: 'We can only begin to understand the condition. the life of a sufferer. by comparing him to a soldier in the trenches of World War I. In the trenches the soldier seldom forgets that the next moment may bring death or crippling. The haemophiliac is literally in the trenches. The soldier may be spared injury. but pain awaits the haemophiliac. Fear. moreover, is paramount to the pain. As in the trenches. the anxiety can be more oppressive than the wound. Waiting to go over the top imposes a greater strain than the actual charge. For the soldiers that survived World War I in the trenches. 4 years seemed eternity; the haemophiliac never leaves the battlefield: Opening Address, Frank Schnabel. World Federation of Hemophilia. Copenhagen. June 25th. 1963. War can come to an oasis, peace can come to the trenches. With this book, Dr Peter Jones has joined the international struggle. Carefully, concisely and cogently. the text offers a grand strategy. With allies like Dr Jones we will, one day, achieve victory. Frank Schnabel, Chairman.Table of Contents1. The body—an introduction to structure and function.- 2. Bleeding and clotting.- 3. The causes of bleeding disorders.- 4. Bleeding episodes.- 5. Treatment 1—therapeutic materials.- 6. Treatment 2—treatment of bleeds; home therapy.- 7. Treatment 3—physiotherapy; aids; dental care.- 8. How a major operation is conducted in safety.- 9. Activities and precautions.- 10. Education and employment.- 11. Sex and family planning.- 12. Past, present and future.- Appendix: Aspirin and paracetamol.- Acknowledgements.

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Book SynopsisThis book is indispensable for students working in a laboratory setting or studying free-ranging populations.Trade Review"John Gillespie has done the near-impossible, condensing the essence of population genetics into a very short book. The result is a little gem. The derivations are simple and clear, and often strikingly original. The minor gaps in the first edition are filled by this equally concise second edition. Population genetics is a complicated subject; only a person of Gillespie's depth of knowledge and insight could simplify without distorting." - James F. Crow, author of Genetics Notes "The book is coherently and logically structured and covers all the most important and incontrovertible aspects of population genetics... I recommend this as a good introductory book that can be used in both undergraduate and graduate courses." - Heredity "A well-developed, thoughtful, and classic book that has been tested and improved through many years in the classroom... A 'must' for anyone interested in plant or animal genetics." - Choice"Table of ContentsList of FiguresPrefaceChapter 1. Genetic VariationChapter 2. Genetic DriftChapter 3. Natural SelectionChapter 4. Two-Locus DynamicsChapter 5. Nonrandom MatingChapter 6. Quantitative GeneticsChapter 7. The Evolutionary Advantage of SexAppendix A. Mathematical NecessitiesAppendix B. ProbabilityBibliography Index

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Book SynopsisWith Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.Trade ReviewConcise and well-argued... essential reading for anyone interested in genetics, disease, and the meaning of race. Science 2006 Practitioners of the future will have to take these separate histories into account as this new era unfolds. -- Doris Teichler Zallen, PhD JAMA 2006 Fascinating. -- Jackie Leach Scully Social History of Medicine 2007 Perfectly suited for use in teaching the history of medicine and health... At once concise, readable, and demanding in its parsimony. It should not be missed by anyone who cares about the emerging shape of health care in the age of genomic medicine. -- Christopher Crenner Journal of the History of Medicine 2008 Offers interesting information and pertinent discussions... The book deserves to be read by a large public. -- Michel Morange Isis 2008 The Troubled Dream of Genetic Medicine brings into focus intriguing concepts at the intersection of science and society... This book ought to encourage others to produce biosocial histories of this kind. -- Abidemi Adegbola, M.D. Child and Adolescent Psychiatry 2009Table of ContentsAcknowledgmentsIntroduction: Ethnic Symbols in Conflicted Times1. Eradicating a ''Jewish Gene'': Promises and Pitfalls in the Fight against Tay-Sachs Disease2. Risky Business in White America: Gene Therapy and Other Ventures in the Treatment of Cystic Fibrosis3. A Perilous Lottery for the Black Family: Sickle Cells, Social Justice, and the New Therapeutic GambleConclusion: Dreams amid DiversityNotesGlossaryIndex

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Book SynopsisLindee's pathbreaking study shows the interdependence of technical and social parameters in contemporary biomedicine.Trade ReviewThese fascinating, well-written stories portray what it is like to work in human or medical genetics, both in the clinic and as a researcher. -- Uta Francke Nature 2006 As difficult as it is to pinpoint the key events in history, Lindee manages this well, singling out and humanising the most important events and players. -- Lindsay Banham Lancet 2006 This history will reward anyone interested in the paths from gene discoveries to cures or the potential for genomic medicine. Science 2006 Captures the complexities of research on genetic disease while prompting us to reconsider the distribution of scientific authority and the dynamics of knowledge production. -- Michael R. Dietrich New England Journal of Medicine 2006 An elegant, accessible, even thrilling book that is itself a moment of historical truth and a must-read. -- Alice Wexler Bulletin of the History of Medicine 2006 An important contribution to our understanding of the making of the future of medicine, not just substantively, but methodologically as well. -- Paolo Palladino Journal of History of Biology 2006 Provocative and thoughtful... An important and interesting exploration of post-World War II genetics and its impact on the current revolution in genetics and biology. -- Michael Yudell Journal of the History of Medicine and Allied Sciences 2006 Lindee argues that the production of scientific knowledge is a community project involving not just researchers, but also research subjects, patients and their families... The resulting insight into the structure and organization of contemporary biomedicine is one of the chief contributions of this original and important new book. -- Diane Paul Medical History 2007 Moments of Truth in Genetic Medicine opens up an important area of contemporary biomedicine, the 'genetization' of disease, to historical scrutiny, looking for decisive turning points far beyond the narrow confines of molecular genetics. Written in a highly accessible style, it will be of interest to anyone concerned with the making of biomedical knowledge, genetic and otherwise. -- Soraya de Chadarevian Isis 2007 A fascinating and thorough job of summarizing the emergence of human genetics from an almost totally ignored discipline to its current position as one of the most high-profile biomedical and societal endeavors. -- Ronald G. Davidson American Journal of Medical Genetics Part A 2006 Thoughtful book... Raises novel issues about the rise of genetic knowledge and formulates questions and strategies that are critical to understanding both the past and future of genetic medicine. -- Stephen Pemberton History and Philosophy of the Life Sciences 2006 A 'must' for any health library concerned with health history, particularly at the college level. Midwest Book Review 2009Table of ContentsAcknowledgments1. Introduction2. Babies' Blood: Phenylketonuria and the Rise of Public Health Genetics3. Provenance and the Pedigree: Victor McKusick's Field Work with the Pennsylvania Amish4. Squashed Spiders: Standardizing the Human Chromosomes and Other Unruly Things5. Two Peas in a Pod: Twin Science and the Rise of Human Behavior Genetics6. Jewish Genes: History, Emotion, and Familial Dysautonomia7. ConclusionNotesEssay on SourcesBibliographyIndex

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Book SynopsisThis 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.Table of ContentsI Diagnosis and treatment: General principles: 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures.- 4 Emergency Treatments II Disorders of Energy Metabolism 5 The Glycogen Storage Diseases and Related Disorders.- 6 Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Glucose and Monocarboylic Acid Monocarboxylate Transporters.- 9 Disorders of Creatine Metabolism.- 10 Disorders of the Oxidative Phosphorylation .- 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation and Riboflavin Metabolism.- 13 Disorders of Ketogenesis and Ketolysis III Small Molecule Disorders 14 Disorders of Galactose Metabolism.- 15 Disorders of Fructose Metabolism.- 16 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders.- 24 Disorders of Glutamine, Serine and Asparagine Metabolism.- 25 Disorders of Amino Acid Transport at the Cell Membrane.- 26 Cystinosis.- 27 Biotin-Responsive Disorders.- 28 Disorders of Cobalamin and Folate Transport and Metabolism.- 29 Disorders of Thiamine and Pyridoxine Metabolism.- 30 Disorders of Neurotransmission.- 31 Disorders of Peptide and Amine Metabolism.- 32 Disorders of Purine and Pyrimidine Metabolism.- 33 Disorders of Haem Biosynthesis.- 34 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc IV Complex Molecule Disorders and Cellular Trafficking Disorders 35 Disorders of intracellular triglycerides and phospholipid metabolism.- 36 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 37 Disorders of Isoprenoid/Cholesterol Synthesis.- 38 Disorders of Bile Acid Synthesis.- 39 Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis.- 40 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid- Lipofuscinoses.- 41 Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 42 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders.- 43 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism.- 44 Disorders of Cellular Trafficking V Appendices 45 Medications Used in the Treatment of Inborn Errors

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Book SynopsisTrade Review"Murphy has gathered a huge amount of research material on longevity, giving the book a tone of meticulous authority" * Kirkus Reviews *"[An] informative deep dive into the research behind living longer and the aging process."---Tom Wilk, New Jersey Monthly"Meticulous. . . . [Murphy's] sweep is vast as she discourses on diet, exercise, insulin signaling and the genes that affect longevity. In her final, superb chapters, she takes on the associations between the human microbiome and cognitive deterioration, wrapping up with a look ahead to emerging drug therapies."---Hamilton Cain, Wall Street Journal"In How We Age, geneticist Coleen Murphy provides no silver bullets for remaining youthful. Rather, she offers a scholarly account of the state of ageing research that is both lively and personal. She also gives real insight into the ups and downs of leading a research laboratory. . . . How We Age will be particularly useful to researchers, but it should also appeal to general readers who want to know what it took to arrive at the current understanding of ageing — and the prospects of undergoing it in better shape."---Linda Partridge, Nature

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Book SynopsisTrade Review"Breathing Race into the Machine brilliantly tracks the remarkable story—lasting to the present—of how ‘correcting for race’ in measures of lung capacity became unremarkable scientific practice. This eye-opening account demonstrates that precision technologies and statistical techniques that supposedly measure biological differences accurately can mask racial myths and wreak devastating consequences for black people’s health and legal rights. Essential reading for everyone concerned about the impact of race on science and technology."—Dorothy Roberts, University of Pennsylvania, author of Fatal Invention: How Science, Politics, and Big Business Re-create Race in the Twenty-first Century"Lundy Braun illuminates how the development of a new machine to measure lung capacity could begin with a benign purpose to assess the impact of working conditions in the coal mines in the early 19th century, but would later ‘morph’ into a justification for the putative relationship between difference and hierarchy that has remained intact for nearly two centuries. Braun documents how the social, economic and political fabric of each period is interwoven into the science of measurement—a theme that deftly carries throughout the book, and will establish Breathing Race into the Machine as a landmark contribution to the social studies of science."—Troy Duster, author of Backdoor to Eugenics"In Breathing Race into the Machine, Lundy Braun powerfully reinvigorates our understanding of how racial formation happens. An incisive, considered study of a seemingly conventional physiology instrument, this book reveals science as a foundational feature of the social construction of race. We create our own difference engines, but Braun’s astute book reminds us that we do not have to remain captive to them."—Alondra Nelson, author of Body and Soul: The Black Panther Party and the Fight against Medical Discrimination"A fascinating read."—Choice"Ultimately, Breathing Race into the Machine disrupts ideas about technology’s objectivity to show the pernicious persistence of racial bias."—African American Review"Great value to those with an interest in the history of science and technology, occupational health and disease, and the construction of whiteness and blackness."—Social History of Medicine"Intellectually provocative, original, and extensively researched."—American Historical Review"This book reminds us that tools have a history and that their history matters."—Journal of American History"Lundy Braun provides her readers with the most meticulously detailed, and I should add sophisticated, historical analysis. . . her account of the career of the technical device of the spirometer offers surprising and valuable insights."—Science as Culture"Breathing Race into the Machine is theoretically informed, well researched, and well written. Its compelling account contributes to the scholarship of racialization in science and medicine."—ISISTable of ContentsContentsAcknowledgmentsIntroduction: Measuring Vital Capacity1. “Inventing” the Spirometer: Working-Class Bodies in Victorian England2. Black Lungs and White Lungs: The Science of White Supremacy in the Nineteenth-Century United States3. Filling the Lungs with Air: The Rise of Physical Culture in America4. Progress and Race: Vitality in Turn-of-the-Century Britain5. Globalizing Spirometry: The “Racial Factor” in Scientific Medicine6. Adjudicating Disability in the Industrial Worker7. Diagnosing Silicosis: Physiological Testing in South African Gold MinesEpilogue: How Race Takes RootNotesIndex

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Book SynopsisForward -- A Brave New World., Chapter 1.  From Genes to Genomes:  What's It All About?  ([Author's Note: Introduction; include short genetics history]., Chapter 2.  My Family's Medical History (and why it's important for me to know)., Chapter 3.  A Savior Sibling [Author's Note:  Preimplantation genetic diagnosis/Selection]., Chapter 4. Too Few, Too Many [Author's Note: Aneuploidy/Copy Number Variation]., Chapter 5. You've Probably Already Had a Genetic Test (But no one told you):   Newborn Screening., Chapter 6. Sweet Blood (Genetics and Diabetes)., Chapter 7.  Will this Drug Work for You? [Author's Note:  Pharmacogenetics/Creating a Drug Just for You]., Chapter 8.  No Two Cancers Are the Same [Author's Note:  Microarrays and Disease sub-classification]., Chapter 9.  Can We Fix our Faulty Genes? [Author's Note: Gene Therapy/Genome Editing-CRISPR]., Chapter 1Table of ContentsForward -- A Brave New World [Part I -- Introduction] Chapter 1. From Genes to Genomes: What’s It All About? ([Author’s Note: Introduction; include short genetics history] [Part II – Medical Applications] Chapter 2. My Family’s Medical History (and why it’s important for me to know) Chapter 3. A Savior Sibling [Author’s Note: Preimplantation genetic diagnosis/Selection] Chapter 4. Too Few, Too Many [Author’s Note: Aneuploidy/Copy Number Variation] Chapter 5. You’ve Probably Already Had a Genetic Test (But no one told you): Newborn Screening Chapter 6. Sweet Blood (Genetics and Diabetes) Chapter 7. Will this Drug Work for You? [Author’s Note: Pharmacogenetics/Creating a Drug Just for You] Chapter 8. No Two Cancers Are the Same [Author’s Note: Microarrays and Disease sub-classification] Chapter 9. Can We Fix our Faulty Genes? [Author’s Note: Gene Therapy/Genome Editing-CRISPR] Chapter 10. Hunting the Invisible Bugs through DNA (Author’s Note: Infectious disease/MRSA story) Chapter 11. Can Genes Explain Behavior? (Note: Behavioral Genetics/Gene x Environment) [Part III – Non-medical Applications] Chapter 12. The Not So Golden Age of Golden Rice {alternative title: Tastier (and Healthier) Foods through Genetic Technology} Chapter 13. Cleaning up the Environment: New Ways to Detect Land Mines and Digest Oil Chapter 14. Genetics and the Crime Scene: Just like TV? Chapter 15. Are We Related to Cavemen? [Alternative Title: Ancient Ancestors] [Author’s Note: Neanderthal/woolly mammoth/Population history/Redefining Race] Chapter 16. Creating New Life [Alternative Title: Bringing back Extinct Species] Chapter 17. Genetic Testing Without A Physician – A Brave New World [Author’s Note: Direct to Consumer Marketing] [move this to Part II?]

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Book SynopsisGenomics has transformed the biological sciences. From epidemiology and medicine to evolution and forensics, the ability to determine an organism''s complete genetic makeup has changed the way science is done and the questions that can be asked of it. Its most celebrated achievement was the Human Genome Project, a technologically challenging endeavor that took thousands of scientists around the world 13 years and over 3 billion US dollars to complete. In this Very Short Introduction John Archibald explores the science of genomics and its rapidly expanding toolbox. Sequencing a human genome now takes only a few days and costs as little as $1,000. The genomes of simple bacteria and viruses can be sequenced in a matter of hours on a device that fits in the palm of your hand. The resulting sequences can be used to better understand our biology in health and disease and to ''personalize'' medicine. Archibald shows how the field of genomics is on the cusp of another quantum leap; the implications for science and society are profound.ABOUT THE SERIES: The Very Short Introductions series from Oxford University Press contains hundreds of titles in almost every subject area. These pocket-sized books are the perfect way to get ahead in a new subject quickly. Our expert authors combine facts, analysis, perspective, new ideas, and enthusiasm to make interesting and challenging topics highly readable.Trade ReviewGenomics does an amazingly good job of covering the gist and gestalt of arguably the most wide-ranging and fastest developing of the biological sciences. * CHOICE Reviews *Table of Contents1: What is genomics? 2: How to read the book of life 3: Making sense of genes and genomes 4: The human genome in biology and medicine 5: Evolutionary genomics 6: Genomics and the microbial world 7: The future of genomics Further Reading Index

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Book SynopsisThe first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.Table of ContentsPreface; Part I. General Principles of Genetics and Genomics: 1. Methods in complex trait analysis: mapping the genetic basis of sleep using model organisms Amelie Baud and Jonathan Flint; 2. Linkage and associations Elizabeth J. Rossin and Benjamin M. Neale; 3. Genome-wide association study approaches to sleep phenotypes Patrick Sleiman, Michael March and Hakon Hakonanson; Part II. Genetics of Sleep and Circadian Rhythms: 4. Genetic epidemiology of sleep and sleep disorders Christer Hublin and Jaakko Kaprio; 5. Drosophlia model systems for genetic sleep research Stephane Dissel and Paul J. Shaw; 6. Caenorhabditis elegans and zebrafish in sleep research David A. Prober and David M. Raizen; 7. Optogenetic control of arousal neurons Antoine Adamantidis, Matthew E. Carter and Luis De Lecea; 8. Prostaglandin D2 in the regulation of sleep Yoshihiro Urade and Michael Lazarus; 9. Astroglial regulation of sleep Marcos G. Frank; 10. The role of metabolic genes in sleep regulation Matthew S. Thimgan and Karen D. Schilli; 11. A systems biology approach for uncovering the genetic landscape for multiple sleep-wake traits Peng Jiang, Andrew Kasarskis, Christopher J. Winrow, John J. Renger and Fred W. Turek; 12. Genetic control of the circadian pacemaker Ethan Buhr and Joseph S. Takahashi; 13. Epigenetic basis of circadian rhythms and sleep disorders Irfan A. Qureshi and Mark F. Mehler; Part III. Sleep Physiology and Homeostasis: 14. Genetics of sleep and EEG Thomas Curie and Mehdi Tafti; 15. Genetic interaction between circadian and homeostatic regulation of sleep Valérie Mongrain and Paul Franken; 16. Genetic approaches to understanding circadian entrainment Till Roenneberg and Karla V. Allebrandt; 17. Animal models for cognitive deficits induced by sleep deprivation Laurent Seugnet and Paul Salin; 18. Individual differences in sleep duration and responses to sleep loss Devon A. Grant and Hans P. A. Van Dongen; 19. Clock polymorphisms associated with human diurnal preference Simon N. Archer and Derk-Jan Dijk; 20. Sleep and long-term memory storage Jennifer H. K. Choi and Ted Abel; 21. Sleep and synaptic homeostasis Chiara Cirelli and Giulio Tononi; Part IV. Insomnias: 22. Heritability and genetic factors in chronic insomnia Yves Dauvilliers and Charles M. Morin; Part V. Narcolepsy and Hypersomnias: 23. HLA and narcolepsy Katsushi Tokunaga and Makoto Honda; 24. Orexin (hypocretin) and narcolepsy Takeshi Sakurai and Seiji Nishino; 25. Gene-wide association studies in narcolepsy Hyun Hor; 26. Genetic disorders producing symptomaric narcolepsy Seiji Nishino and Takashi Kanbayashi; 27. Genetics of recurrent hypersomnia Michael Billiard, Rosa Periata-Adrados and Mehdi Tafti; Part VI. Sleep-related Breathing Disorders: 28. Linkage and candidate gene studies of obstructive sleep apnea Annette C. Fedson, Thorarinn Gislason and Allan I. Pack; 29. Genomic mutations and genotype-phenotype in pediatric sleep-related breathing disorders Leila Kheirandish-Gozal and David Gozal; Part VII. Circadian Rhythm Sleep Disorders: 30. Genetic of familial advanced sleep phase Suet Ying Chong, Louis J. Ptacek and Ying-Hui Fu; 31. Delayed sleep phase disorder, circadian genes, sleep homeostasis and light sensitivity Simon N. Archer and Derk-Jan Dijk; Part VIII. Parasomnias and Sleep-related Movement Disorders: 32. Family and genome-wide association studies of restless legs syndrome Eva C. Schulte and Juliane Winkelmann; Part IX. Psychiatric and Medical Disorders: 33. Circadian clock genes and psychiatric disorders Marc Cuesta, Nicholas Cermakian and Diane B. Boivin; 34. Genetics of autosomnal dominant nocturnal frontal lobe epilepsy Keivan Kaveh Moghadam and Giuseppe Plazzi; Part X. Medication Effects: 35. Gene therapy for sleep disorders Dheeraj Pelluru, RodaRani Konadhode, Carlos Blanco-Centurion, Meng Liu and Priyattam J. Shiromani; Index.

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Book SynopsisAmong the offspring of humans and other animals are occasional individuals that are malformed in whole or in part. The most grossly abnormal of these have been referred to from ancient times as monsters, because their birth was thought to foretell doom; the less severely affected are usually known as anomalies. This volume digs deeply into the cellular and molecular processes of embryonic development that go awry in such exceptional situations. It focuses on the physical mechanisms of how genes instruct cells to build anatomy, as well as the underlying forces of evolution that shaped these mechanisms over eons of geologic time. The narrative is framed in a historical perspective that should help students trying to make sense of these complex subjects. Each chapter is written in the style of a Sherlock Holmes story, starting with the clues and ending with a solution to the mystery.Trade Review'With rigorous arguments presented in captivating prose and crystal-clear drawings so rich in information, this new masterpiece by Lewis Held is a unique introduction to the genetics of development. Here, monstrous and normal illuminate each other, as products of the same developmental logic. This book is full of inspiring insights, on a par with the works of the great developmental biologists highlighted in its pages.' Alessandro Minelli, University of Padova, Italy, and author of Understanding Development'Orthodoxy is so rife in science these days it is strangling originality. The spread of 'best practice' as well as the related belief that there is only one ideal way to understand and explain things has stifled both diversity and imagination. … Lewis Held shows us there is another way - to look at the natural world open-mouthed and open-minded. We are taken on a lively ramble through myriad natural phenomena in countless species and the attempts of scientists to understand them. There is an infectious sense of the wonder and complexity of everything. There are innumerable nuggets to be found and it is fun. … His book sings like the descant in a choral rendition of a familiar hymn. I recommend it, but don't try and read it all in one go!' Peter A. Lawrence, University of Cambridge, UK'In this wonderful exploration of development, Lewis Held uses both familiar and less-well-known examples of frogs, flies, dogs, and cats to delve deeply into the underlying biological principles their traits can illustrate … Held also describes the genetic basis of traits that pet-owners find endearing … In addition to this fascinating exploration of genetic mechanisms and their outcomes is another idea that I have always valued in Lewis Held's work: the respect for pioneering insights and discoveries by earlier researchers like Curt Stern, Walter Gehring, Ernst Hadorn, and others. I remember hearing a faculty advisor once criticize a new graduate student for planning to cite a research article that was more than a couple years old as being irrelevant to 'modern research'. Thankfully, writers like Held remind us that the story of discovery is a long one, and critical insights can come from anywhere.' Jim Thompson, Drosophila Information Service'Recommended. Graduate students and faculty.' D. A. Brass, ChoiceTable of ContentsPreface; Part I. Frogs: 1. The introspective frog; 2. Two-headed tadpoles; 3. Extra-legged frogs; Part II. Flies: 4. The double-jointed fly; 5. The four-winged fly; 6. The naked fly; Part III. Dogs: 7. The Shar-Pei; 8. The bully whippet; 9. The Great Pyrenees; Part IV. Cats: 10. The blotched tabby; 11. The Siamese cat; 12. The calico cat.

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Book SynopsisIn this collection, the authors present research supporting the claim that the study of autochthonous microbial communities is of crucial importance for understanding the genetic and biotechnological potential of bioremediation in environments close to the areas of extraction and susceptible to contamination. They discuss the main characteristics of petroleum, including its exploitation aspects, the process of geological formation, and environmental impacts. Following this, this book suggests that in case of accidental defects occurring in any part of the system, a coordinated counteraction of numerous mediators may successfully help in the restoration of physiologic processes by means of either overexpression or hyperactivity. Even serious defects of genome stabilizer mechanisms may be kept in balance for a long duration, showing the clinical signs of good health. The authors go on to discuss Rett Syndrome, a rare, neurodevelopmental genetic disorder that develops in early childhood and influences many functions within neurobehavioural domains. The core of phenotype symptoms includes severe linguistic and motor impairments. The correlations between genotype and motor abilities in subjects with Rett Syndrome are discussed. Next, this book examines Cornelia de Lange syndrome (CdLS) (also known as Bushy syndrome, Amsterdam dwarfism and Brachmann- de Lange syndrome) a genetic multi system disorder, usually caused by spontaneous mutation. The estimated occurence is about 1:10,000-30,000 births. A separate paper is presented illustrating the clinical variability of cognitive-behavioral phenotype in the different SCAs, determining that a precise identification of the cognitive and behavioral phenotype in different SCAs may enhance the clinical treatment, anticipatory guidance, and care throughout the lifespan. Transcranial direct current stimulation (tDCS), a non-invasive, painless brain stimulation treatment, is examined. tDCS uses direct electrical currents of low intensity to stimulate specific parts of the brain.

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Book SynopsisAn Essential Guide to Cytogenetics explores the use of cytogenetic data for studies of frogs as well as the insights that hypotheses of phylogenetic relationships have added to this issue. The authors provide an overview of PcP190 satellite DNA, sex chromosome systems and B chromosomes found in Anura. This book also aim to establish the health effects of various activities and exposures by examining the levels of exposure and the biological effects resulting from the interaction between the organism and the chemical agent. Following this, a chapter is included which focuses on on the complex karyotype issues in myelodysplastic diseases, leukemias, lymphomas and multiple myelomas as the authors see them in daily practice in their center. The authors investigate hybridization, suggesting that the viability of a hybrid between species with a chromosomal discrepancy may offer important hypotheses to explain the morphological, molecular, and cytogenetic diversity of the genus. Trichorhinophalangeal syndrome is analyzed, suggesting that in cases of cytogenetically-invisible alterations, parental FISH analysis as well as aCGH should be considered as part of the clinical baseline testing.

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Book SynopsisDeoxyribonucleic acid, or DNA, is the fundamental building block for an individual''s entire genetic makeup. DNA is a powerful tool for law enforcement investigations because each person''s DNA is different from that of every other individual (except for identical twins). As early as the 1980s, states began enacting laws that required the collection of DNA samples from offenders convicted of certain sexual and other violent crimes. Chapter 1 provides an overview of how DNA is used to investigate crimes and help protect the innocent. Chapters 2 and 3 report on the establishment of a system for integration of Rapid DNA instruments for use by law enforcement to reduce violent crime and reduce the current DNA analysis backlog. Chapter 4 examines what is known about the amount of backlogged DNA evidence at state and local government labs; the extent to which OJP measures CEBR grant performance; and the extent to which OJP has designed controls to identify conflicts of interest related to CEBR grants. Chapter 5 reviews the level of crime scene DNA evidence backlogs among CEBR grantees and the factors that contribute to such backlogs; the extent to which DOJ has clearly defined goals for CEBR; and the extent to which OJP has controls for CEBR related to federal conflicts of interest and lobbying requirements. In 2016, about 323,000 individuals age 12 or older were reported victims of sexual assault, according to the Bureau of Justice Statistics. Studies have shown that exams performed by sexual assault forensic examiners -- medical providers trained in collecting and preserving forensic evidence -- may result in better physical and mental health care for victims, better evidence collection, and higher prosecution rates. Chapter 6 describes what was known in 2016 about the availability of sexual assault forensic examiners nationally and in selected states and the challenges selected states faced in maintaining a supply of sexual assault forensic examiners.

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Book SynopsisGenetic disorders constitute an important portion of childhood mortality, stillbirths, and ongoing disability. Single gene disorders arising from gene mutations, affecting any aspect of function or structure of the gene, are extraordinarily diverse. Most of these gene disorders are usually rare, but collectively they constitute an important public health burden. As such, the authors address the requirement for essential genetic and management services. Age-related macular degeneration is discussed, with risk factors including age, gender, ethnicity, smoking, body weight, hypertension and diet. Confluence of genetic and environmental risk factors lends credence to a complex, multifactorial etiologic model of development of age-related macular degeneration. Continuing, this compilation explores the molecular mechanisms of telomere attachment, specifically during the interphase. Their study is important not only for general telomere biology, but also for the understanding of cell aging and etiology of telomere-associated aging diseases. The important transcriptomic analyses performed in Streptomyces are discussed, particularly addressing how they contribute to uncovering the biochemical mechanisms that regulate morphology and secondary metabolism activation. A focus on bovine mastitis is provided, the most economically devastating disease affecting the dairy industry. Resistance to mastitis is a complex function involving various biological pathways, molecules and cells. Genetic factors are one of several factors affecting the occurrence of mastitis. The closing study centers on the way in which extracellular DNA is enriched with pericentromeric tandem repeats, the most variable portion of the genome up to species specificity.Table of ContentsPreface; The Burden of Genetic Disorders and Role of Advanced Diagnostic, Therapeutic, Screening, and Counseling Approaches in Reducing it; Genetics of Age-Related Macular Degeneration: An Overview; Molecular Links between Telomeres and the Nuclear Envelope; Transcriptomics in Streptomyces; Polymorphism in CD14 Gene and Its Association with Mastitis in Dairy Animals; Repetitive Sequences in the Extracellular DNA for the Evolutionary Theory Unsolved Problems; Index.

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Book Synopsisp53: Structure, Functions and Role in Disease discusses the role of p53 dysregulation in different hematologic neoplasms defined by the current WHO classification. The prevalence of p53 aberration, mechanisms of p53 inactivation, regulation of p53 signaling pathway, and prognostic implications of p53 dysfunction in different hematologic malignancies are reviewed. The authors also discuss the prevalence of p53 mutations in cancers and important mechanisms underlying the impact of p53 mutations such as loss of function, dominant negative effect and gain of function. Recent findings related to the p53-mediated neuroprotective effects of natural compounds at the cellular, molecular, and behavioral level in various in vitro and in vivo models of neurodegenerative diseases are described, with a focus on Alzheimer''s disease.

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Book SynopsisThe normal functioning of the human female reproductive system is sacrosanct, as it allows for the essential nurturing of offspring. Conditions such as endometriosis and fibroid formation can have devastating consequences to the progeny, as well as the parents, both physically and mentally. This book has several chapters that deal with the role of stem cells in the safer outcome of pregnancies. Mesenchymal stem cells continue to make waves as various researchers dwell on their low immunogenicity to prevent graft rejection when used for therapeutic strategies. Dental pulp-derived stem cells are being sought after to address many therapies. However, researchers must exercise ethical caution to avoid resorting to pulling out the teeth of live, healthy animals, including those qualified for pets. The efficacy of cancer treatments with naturally occurring plant-derived substances and the characterization of cancer stem cells and lesions continue to engage researchers of this ever-perennial disease and its potentially lethal pathology. Stem cells to replenish the pancreatic islet cells from induced pluripotent stem cells are an actively pursued subject in regenerative medicine for diabetes patients. Stem cells in immune responses are also attracting researchers to investigate immune tolerance and autoimmunity.Table of ContentsPreface; Stem Cells of Female Reproductive System: Endometrium vs Fallopian Tube; Anti-angiogenic Potential of Itraconazole and Its Reversal by Endometrial Stem Cells Using Chick Embryo Model; Intrauterine Infusion of Human Autologous Peripheral Blood Mononuclear Cells Improves In Vitro Fertilization Success in Infertile Women; Development and Characterization of Hematopoietic Stem Cells from Human Embryonic Stem Cells; Mutation Analysis of MTHFR Gene in Indian Women with Unexplained Recurrent Miscarriages; Folic Acid Supplementation Improves Pregnancy Outcomes; Comparison of the Proliferation Potential of Bone Marrow and Adipose- Derived Mesenchymal Stem Cells Cultivating on Human Amniotic Membrane; Efficacy of the Mesenchymal Stem Cells Therapy Combined with Core Decompression in Avascular Necrosis of the Femoral Head: A Systematic Review and Meta-analysis of Clinical Trials; Proliferation Capacity and Osteogenic Potential of Human Gingival Stem Cells versus Human Dental Pulp Stem Cells; Comparison between the Effect of MTA and Biodentine on Proliferation and Odontogenic Differentiation of Dental Pulp Stem Cells (In Vitro Study); The Monomeric Resins TEGDMA and HEMA Regulate the Transcriptional Control of Matrix Metalloproteinases MMP-2 and MMP-9, in Human Pulp Fibroblasts and Mesenchymal Stem Cells; Effect of Dental Stem Cells on T Cell Proliferation; Amount of Bone Morphogenetic Protein-2, Epidermal Growth Factor, and Vascular Endothelial Growth Factor in Adipose Tissue, Umbilical Cord, and Bone Marrow Mesenchymal Stem Cell Derived Secretome: An In-Vitro Study; Identified Cancer Stem Cells (CSCs) in Ex- Vivo Cultured Acute Lymphoid Leukemia (B-ALL) Cells; Role of Simarouba glauca DC Plant in Cancer: A Short Review; Study of Histomorphological Spectrum of Thyroid Lesions in Thyroidectomy Specimens, Along with Cytological Correlation: Cross Sectional Study from 2015 to 2018; Generation of Pancreatic β Cells from Peripheral Blood Mononucleocytes Derived Induced Pluripotent Stem Cells; Stem Cells: An Exciting Avenue for Diabetes Mellitus; Regenerations Role in the Development of Desensitization and Immunological Tolerance; Features of the Immune Response to Ones Own Antigens and Foreign Antigens; Regenerative Approach to the Treatment of COVID-19 Patients; Medical Applications of Infrared Thermography: A Narrative Review; Index.

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Book SynopsisThis book is intended to provide a bridge between behavioural genetics, psychiatric genetics, developmental psychopathology and developmental psychology.

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Book SynopsisAmong the many applications of stem cell research are nervous system diseases, diabetes, heart disease, autoimmune diseases as well as Parkinson''s disease, end-stage kidney disease, liver failure, cancer, spinal cord injury, multiple sclerosis, Parkinson''s disease, and Alzheimer''s disease. Stem cells are self-renewing, unspecialized cells that can give rise to multiple types all of specialized cells of the body. Stem cell research also involves complex ethical and legal considerations since they involve adult, fetal tissue and embryonic sources. This new book brings together leading research from throughout the world in this frontier field.

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